NM_001134363.3(RBM20):c.1980C>A (p.Ser660Arg) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004525791.1
Allele description [Variation Report for NM_001134363.3(RBM20):c.1980C>A (p.Ser660Arg)]
NM_001134363.3(RBM20):c.1980C>A (p.Ser660Arg)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
transcription initiation factor IIA subunit 2 [Homo sapiens]
transcription initiation factor IIA subunit 2 [Homo sapiens]gi|1005261053|ref|NP_001307859.1|Protein
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Last Updated: May 7, 2024